Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity?

P Franceschini; M P Vardeu; A Guala; D Franceschini; F Signorile; A Testa

Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity?

Clin Dysmorphol. 1994 Jul;3(3):234-7.

Authors

P Franceschini¹, M P Vardeu, A Guala, D Franceschini, F Signorile, A Testa

Affiliation

¹ Istituto di Discipline Pediatriche, Università di Torino, Italy.

PMID: 7981859

Abstract

We describe a patient with deafness, normal intellect and a unique phenotype characterized by a rigid mask-like face, narrow, upslanting palpebral fissures, flat malar bones, thick lower lip, malformed auricles, preaxial polydactyly with triphalangeal thumbs, syn-ectrodactyly of toes and first degree hypospadias.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / classification*
Adolescent
Adult
Deafness*
Ear / abnormalities*
Face / abnormalities*
Female
Humans
Hypospadias
Intelligence
Male
Polydactyly*
Syndrome
Toes / abnormalities*